A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects
Posch, Maximilian G, Gramlich, Michael, Sunde, Margaret, Schmitt, Katharina R, Lee, Stella H Y, Richter, Silke, Kersten, Andrea, Perrot, Andreas, Panek, Anna N, Al Khatib, Iman H, Nemer, Georges, Mégarbané, André, Dietz, Rainer, Stiller, Brigitte, Berger, Felix, Harvey, Richard P, Özcelik, Cemil
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
Get full text
Journal Article
Loss of Ubiquitin Carboxy-Terminal Hydrolase L1 Impairs Long-Term Differentiation Competence and Metabolic Regulation in Murine Spermatogonial Stem Cells
Alpaugh, Whitney F, Voigt, Anna L, Dardari, Rkia, Su, Lin, Al Khatib, Iman, Shin, Wisoo, Goldsmith, Taylor M, Coyle, Krysta M, Tang, Lin A, Shutt, Timothy E, Klein, Claudia, Biernaskie, Jeff, Dobrinski, Ina
Published in Cells (Basel, Switzerland) (31.08.2021)
Published in Cells (Basel, Switzerland) (31.08.2021)
Get full text
Journal Article
Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome
Al Khatib, Iman, Deng, Jingti, Symes, Andrew, Kerr, Marina, Zhang, Hongliang, Huang, Shar-yin Naomi, Pommier, Yves, Khan, Aneal, Shutt, Timothy E.
Published in The Journal of biological chemistry (01.10.2022)
Published in The Journal of biological chemistry (01.10.2022)
Get full text
Journal Article
Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT
Al Khatib, Iman, Deng, Jingti, Lei, Yuanjiu, Torres-Odio, Sylvia, Rojas, Gladys R, Newman, Laura E, Chung, Brian K, Symes, Andrew, Zhang, Hongliang, Huang, Shar-yin N, Pommier, Yves, Khan, Aneal, Shadel, Gerald S, West, Andrew Phillip, Gibson, William T, Shutt, Timothy E
Published in Human molecular genetics (20.07.2023)
Published in Human molecular genetics (20.07.2023)
Get full text
Journal Article
Advances Towards Therapeutic Approaches for mtDNA Disease
Al Khatib, Iman, Shutt, Timothy E
Published in Advances in experimental medicine and biology (01.01.2019)
Published in Advances in experimental medicine and biology (01.01.2019)
Get more information
Journal Article
The Ketogenic Diet Metabolite β-Hydroxybutyrate Promotes Mitochondrial Elongation via Deacetylation and Improves Autism-like Behavior in Zebrafish
Shutt, Tim, Uddin, Golam Mezbah, Zaman, Mashiat, Kurrasch, Deborah, Rho, Jong, Lacroix, Rachel, Iman Al Khatib
Published in bioRxiv (03.10.2022)
Published in bioRxiv (03.10.2022)
Get full text
Paper
Functional characterization of two variants in the mitochondrial topoisomerase gene TOP1MT that impact regulation of the mitochondrial genome
Iman Al Khatib, Kerr, Marina, Zhang, Hongliang, Huang, Shar-Yin N, Pommier, Yves, Khan, Aneal, Shutt, Timothy E
Published in bioRxiv (02.08.2021)
Published in bioRxiv (02.08.2021)
Get full text
Paper
Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT
Iman Al Khatib, Deng, Jingti, Symes, S Andrew, Zhang, Hongliang, Huang, Shar-Yin N, Pommier, Yves, Khan, Aneal, Gibson, William, Shutt, Tim
Published in bioRxiv (08.03.2022)
Published in bioRxiv (08.03.2022)
Get full text
Paper